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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-40366856-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40366856&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40366856,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_012268.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "NM_012268.4",
"protein_id": "NP_036400.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409735.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012268.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000409735.9",
"protein_id": "ENSP00000386938.3",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012268.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409735.9"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000356508.9",
"protein_id": "ENSP00000348901.5",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356508.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "n.320C>T",
"hgvs_p": null,
"transcript": "ENST00000485448.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485448.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "NM_001031696.4",
"protein_id": "NP_001026866.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031696.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "NM_001291311.2",
"protein_id": "NP_001278240.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291311.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000409281.5",
"protein_id": "ENSP00000387022.1",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409281.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000409419.5",
"protein_id": "ENSP00000386293.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409419.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000409587.5",
"protein_id": "ENSP00000387050.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409587.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700616.1",
"protein_id": "ENSP00000515107.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700616.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700619.1",
"protein_id": "ENSP00000515110.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700619.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700620.1",
"protein_id": "ENSP00000515111.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700620.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700621.1",
"protein_id": "ENSP00000515112.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700621.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700623.1",
"protein_id": "ENSP00000515113.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700623.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700625.1",
"protein_id": "ENSP00000515115.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700625.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700626.1",
"protein_id": "ENSP00000515116.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700626.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700628.1",
"protein_id": "ENSP00000515117.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700628.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700630.1",
"protein_id": "ENSP00000515118.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700630.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700631.1",
"protein_id": "ENSP00000515119.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700631.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700632.1",
"protein_id": "ENSP00000515120.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700632.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700633.1",
"protein_id": "ENSP00000515121.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700633.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.Tyr62Tyr",
"transcript": "ENST00000700634.1",
"protein_id": "ENSP00000515122.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 490,
"cds_start": 186,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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],
"gene_symbol": "PLD3",
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.234,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_012268.4",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Tyr62Tyr"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}